Canonical Allele Identifier: CA497693843

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124293C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220974C>A , CM000679.2:g.7220974C>A	GRCh38
NC_000017.10:g.7124293C>A , CM000679.1:g.7124293C>A	GRCh37
NC_000017.9:g.7065017C>A	NCBI36
NG_007975.1:g.6141C>A
NG_008391.2:g.4077G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.393C>A MANE Select	ENSP00000349297.5:p.Thr131=
ENST00000322910.9:c.*348C>A	ENSP00000325395.5:n.*348C>A
ENST00000350303.9:c.327C>A	ENSP00000344152.5:p.Thr109=
ENST00000356839.9:c.393C>A	ENSP00000349297.5:p.Thr131=
ENST00000543245.6:c.462C>A	ENSP00000438689.2:p.Thr154=
ENST00000577191.5:n.470C>A
ENST00000577433.5:n.601C>A
ENST00000577857.5:n.293+144C>A
ENST00000579286.5:n.574C>A
ENST00000579886.2:c.231C>A	ENSP00000463246.1:p.Thr77=
ENST00000580365.1:n.124C>A
ENST00000581378.5:c.92C>A
ENST00000581562.5:n.440C>A
ENST00000582056.5:n.576C>A
ENST00000582166.1:n.374C>A
ENST00000583312.5:c.393C>A	ENSP00000467920.1:p.Thr131=
ENST00000584103.5:c.426C>A	ENSP00000465353.1:p.Thr142=
NM_000018.3:c.393C>A	NP_000009.1:p.Thr131=
NM_001033859.2:c.327C>A	NP_001029031.1:p.Thr109=
NM_001270447.1:c.462C>A	NP_001257376.1:p.Thr154=
NM_001270448.1:c.165C>A	NP_001257377.1:p.Thr55=
XM_006721516.2:c.393C>A	XP_006721579.2:p.Thr131=
XM_011523829.1:c.393C>A	XP_011522131.1:p.Thr131=
XM_011523830.1:c.393C>A	XP_011522132.1:p.Thr131=
XR_934021.1:n.500C>A
XR_934022.1:n.500C>A
XR_934023.1:n.500C>A
XM_006721516.3:c.393C>A	XP_006721579.2:p.Thr131=
XM_011523829.2:c.393C>A	XP_011522131.1:p.Thr131=
XM_011523830.2:c.393C>A	XP_011522132.1:p.Thr131=
XM_024450741.1:c.393C>A	XP_024306509.1:p.Thr131=
XR_934021.2:n.452C>A
XR_934022.2:n.452C>A
XR_934023.2:n.452C>A
NM_000018.4:c.393C>A MANE Select	NP_000009.1:p.Thr131=
NM_001033859.3:c.327C>A	NP_001029031.1:p.Thr109=
NM_001270447.2:c.462C>A	NP_001257376.1:p.Thr154=
NM_001270448.2:c.165C>A	NP_001257377.1:p.Thr55=